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Anderson-Fabry disease and the heart
Constantinos O'Mahony1, Perry Elliott
1Inherited Cardiac Diseases Unit, The Heart Hospital, University College London, UK.
Progress in Cardiovascular Diseases
|January 30, 2010
Summary
Anderson-Fabry disease, a genetic disorder, causes harmful substance buildup. Enzyme replacement therapy shows promise in potentially reversing cardiac damage associated with this condition.
Area of Science:
- Genetics and rare diseases
- Metabolic disorders
- Cardiovascular medicine
Background:
- Anderson-Fabry disease is a rare X-linked lysosomal storage disorder.
- It stems from mutations in the GLA gene, leading to alpha-galactosidase A deficiency.
- This deficiency causes glycosphingolipid accumulation, affecting kidneys, heart, and brain.
Purpose of the Study:
- To summarize the cardiac manifestations of Anderson-Fabry disease.
- To review current management strategies for cardiovascular symptoms.
- To evaluate the potential of enzyme replacement therapy (ERT) in cardiac involvement.
Main Methods:
- Literature review of Anderson-Fabry disease.
- Analysis of clinical data on cardiac involvement.
- Assessment of studies on enzyme replacement therapy efficacy.
Main Results:
- Left ventricular hypertrophy is the most frequent cardiac issue.
- Conduction system disease, valve dysfunction, and arrhythmias are also common.
- ERT may attenuate or reverse some cardiac aspects of the disease.
Conclusions:
- Anderson-Fabry disease has significant cardiac implications.
- Conventional therapies manage symptoms, but ERT offers potential disease modification.
- Further research into ERT's long-term cardiac benefits is warranted.
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